Details of Drug-Metabolizing Enzyme (DME)

General Information of Drug-Metabolizing Enzyme (DME) (ID: DE6AY40)

DME Name N-acetyl-beta-glucosaminidase beta (HEXB)
Synonyms
Beta-N-acetylhexosaminidase subunit beta; Beta-hexosaminidase subunit beta; Beta-hexosaminidase subunit beta chain A; Beta-hexosaminidase subunit beta chain B; Cervical cancer proto-oncogene 7 protein; Hexosaminidase subunit B; N-acetyl-beta-glucosaminidase subunit beta; HCC-7; HCC7; HEXB
Gene Name HEXB
UniProt ID
HEXB_HUMAN
INTEDE ID
DME0107
3D Structure
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2D Sequence (FASTA)
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3D Structure (PDB)
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Gene ID
3074
EC Number EC: 3.2.1.52
Hydrolases
Glycosylase
O/S-glycosyl compound glycosidase
EC: 3.2.1.52
Lineage Species: Homo sapiens
Kingdom: Metazoa
Phylum: Chordata
Class: Mammalia
Order: Primates
Family: Hominidae
Genus: Homo
Species: Homo sapiens
Sequence
MELCGLGLPRPPMLLALLLATLLAAMLALLTQVALVVQVAEAARAPSVSAKPGPALWPLP
LSVKMTPNLLHLAPENFYISHSPNSTAGPSCTLLEEAFRRYHGYIFGFYKWHHEPAEFQA
KTQVQQLLVSITLQSECDAFPNISSDESYTLLVKEPVAVLKANRVWGALRGLETFSQLVY
QDSYGTFTINESTIIDSPRFSHRGILIDTSRHYLPVKIILKTLDAMAFNKFNVLHWHIVD
DQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEFDTPGHTLSWGK
GQKDLLTPCYSRQNKLDSFGPINPTLNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKC
WESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINKGSIVWQEVFDDKAKLAPGTI
VEVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQL
FIGGEACLWGEYVDATNLTPRLWPRASAVGERLWSSKDVRDMDDAYDRLTRHRCRMVERG
IAAQPLYAGYCNHENM
Function This enzyme is responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues.
KEGG Pathway
Amino sugar and nucleotide sugar metabolism (hsa00520 )
Glycosaminoglycan degradation (hsa00531 )
Glycosphingolipid biosynthesis - ganglio series (hsa00604 )
Glycosphingolipid biosynthesis - globo series (hsa00603 )
Lysosome (hsa04142 )
Metabolic pathways (hsa01100 )
Other glycan degradation (hsa00511 )
Various types of N-glycan biosynthesis (hsa00513 )
Reactome Pathway
Defective HEXB causes GM2G2 (R-HSA-3656248 )
Glycosphingolipid metabolism (R-HSA-1660662 )
Hyaluronan uptake and degradation (R-HSA-2160916 )
Keratan sulfate degradation (R-HSA-2022857 )
Neutrophil degranulation (R-HSA-6798695 )
CS/DS degradation (R-HSA-2024101 )

Molecular Interaction Atlas (MIA) of This DME

Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DME
1 Approved Drug(s) Metabolized by This DME
Drug Name Drug ID Indication ICD 11 Highest Status REF
Chondroitin sulfate DM0N19Y N. A. N. A. Phase 4 [1]

Molecular Expression Atlas (MEA) of This DME

Molecular Expression Atlas (MEA) Jump to Detail Molecular Expression Atlas of This DME
Disease Name ICD 11 Studied Tissue p-value Fold-Change Z-score
Acute myelocytic leukaemia 2B33.1 Bone marrow 1.50E-03 1.14E-01 2.94E-01
Alopecia ED70 Skin from scalp 5.32E-06 -2.63E-01 -8.64E-01
Alzheimer's disease 8A20 Entorhinal cortex 8.81E-01 4.38E-02 1.61E-01
Ankylosing spondylitis FA92.0 Pheripheral blood 2.27E-01 1.28E-01 6.86E-01
Aortic stenosis BB70 Calcified aortic valve 7.91E-01 1.66E-01 1.18E-01
Apnea 7A40 Hyperplastic tonsil 9.43E-01 8.21E-02 1.56E-01
Arthropathy FA00-FA5Z Peripheral blood 7.78E-01 4.33E-02 2.44E-01
Asthma CA23 Nasal and bronchial airway 9.82E-05 4.44E-01 7.17E-01
Atopic dermatitis EA80 Skin 2.62E-13 -5.29E-01 -2.32E+00
Autism 6A02 Whole blood 1.37E-03 4.17E-01 9.89E-01
Autoimmune uveitis 9A96 Peripheral monocyte 2.13E-01 -1.52E-01 -2.15E-01
Autosomal dominant monocytopenia 4B04 Whole blood 4.70E-01 -1.41E-01 -4.23E-01
Bacterial infection of gingival 1C1H Gingival tissue 3.18E-11 3.76E-01 1.16E+00
Batten disease 5C56.1 Whole blood 9.96E-01 1.52E-01 4.52E-01
Behcet's disease 4A62 Peripheral blood 4.91E-01 1.07E-01 4.52E-01
Bipolar disorder 6A60-6A6Z Prefrontal cortex 7.72E-01 1.74E-02 4.84E-02
Bladder cancer 2C94 Bladder tissue 3.52E-13 -7.88E-01 -6.70E+00
Breast cancer 2C60-2C6Z Breast tissue 8.48E-01 -1.79E-02 -3.22E-02
Cardioembolic stroke 8B11.20 Whole blood 1.17E-02 1.02E-01 6.79E-01
Cervical cancer 2C77 Cervical tissue 3.75E-03 5.27E-01 1.18E+00
Childhood onset rheumatic disease FA20.Z Peripheral blood 7.22E-01 1.73E-02 5.58E-02
Chronic hepatitis C 1E51.1 Whole blood 6.96E-01 -2.76E-01 -5.73E-01
Chronic obstructive pulmonary disease CA22 Lung tissue 4.77E-01 -2.03E-02 -5.92E-02
Chronic obstructive pulmonary disease CA22 Small airway epithelium 8.97E-02 8.68E-02 2.96E-01
Chronic rhinosinusitis CA0A Sinus mucosa tissue 7.55E-01 -1.72E-01 -4.07E-01
Colon cancer 2B90 Colon tissue 8.33E-07 1.32E-01 6.49E-01
Coronary artery disease BA80-BA8Z Peripheral blood 3.02E-01 3.88E-01 1.00E+00
Diffuse large B-cell lymphoma 2A81 Tonsil tissue 3.79E-01 7.84E-02 1.90E-01
Endometriosis GA10 Endometrium tissue 6.49E-02 -1.35E-01 -1.48E-01
Familial hypercholesterolemia 5C80.00 Peripheral blood 3.33E-02 -1.20E-01 -7.31E-01
Familial hypercholesterolemia 5C80.00 Whole blood 1.05E-16 1.50E+00 1.94E+00
Gastric cancer 2B72 Gastric tissue 3.44E-02 6.61E-01 3.03E+00
Glioblastopma 2A00.00 Nervous tissue 1.01E-76 6.75E-01 1.37E+00
Glioma 2A00.0Y-2A00.0Z Brain stem tissue 3.61E-01 -2.58E-01 -1.17E+00
Glioma 2A00.0Y-2A00.0Z White matter tissue 5.05E-01 2.92E-01 3.79E-01
Head and neck cancer 2D42 Head and neck tissue 1.70E-26 6.51E-01 1.80E+00
HIV-associated neurocognitive impairment 8A2Y-8A2Z White matter tissue 3.50E-01 2.61E-01 5.89E-01
Huntington's disease 8A01.10 Whole blood 7.97E-01 -1.45E-01 -2.38E-01
Idiopathic pulmonary fibrosis CB03.4 Lung tissue 6.19E-02 2.37E-01 1.26E+00
Immunodeficiency 4A00-4A20 Peripheral blood 8.92E-01 3.79E-02 2.97E-01
Influenza 1E30 Whole blood 9.11E-01 5.82E-03 3.94E-02
Interstitial cystitis GC00.3 Bladder tissue 6.07E-03 2.59E-01 3.40E+00
Intracranial aneurysm 8B01.0 Intracranial artery 8.93E-05 9.61E-01 4.73E+00
Irritable bowel syndrome DD91.0 Rectal colon tissue 5.14E-02 -4.81E-02 -4.08E-01
Ischemic stroke 8B11 Peripheral blood 5.61E-01 -7.39E-02 -2.69E-01
Juvenile idiopathic arthritis FA24 Peripheral blood 3.61E-04 -2.09E-01 -7.31E-01
Lateral sclerosis 8B60.4 Skin 2.15E-01 1.58E-01 1.16E+00
Lateral sclerosis 8B60.4 Cervical spinal cord 4.16E-01 5.48E-02 6.30E-02
Liver cancer 2C12.0 Liver tissue 1.08E-08 5.08E-01 1.25E+00
Liver failure DB99.7-DB99.8 Liver tissue 2.40E-03 3.84E-01 1.55E+00
Lung cancer 2C25 Lung tissue 1.01E-25 -3.39E-01 -8.87E-01
Lupus erythematosus 4A40 Whole blood 1.41E-10 3.51E-01 8.56E-01
Major depressive disorder 6A70-6A7Z Hippocampus 6.35E-01 -4.88E-02 -1.35E-01
Major depressive disorder 6A70-6A7Z Whole blood 2.30E-01 5.55E-02 2.72E-01
Melanoma 2C30 Skin 4.90E-04 4.83E-01 9.40E-01
Multiple myeloma 2A83.1 Peripheral blood 3.51E-01 -1.00E-01 -5.59E-01
Multiple myeloma 2A83.1 Bone marrow 2.51E-05 1.70E+00 3.78E+00
Multiple sclerosis 8A40 Plasmacytoid dendritic cells 4.42E-01 -1.41E-01 -4.36E-01
Myelodysplastic syndrome 2A36-2A3Z Bone marrow 9.68E-02 6.21E-02 1.80E-01
Myelofibrosis 2A20.2 Whole blood 7.67E-04 -4.04E-01 -2.08E+00
Myocardial infarction BA41-BA50 Peripheral blood 1.23E-01 2.34E-01 3.47E-01
Myopathy 8C70.6 Muscle tissue 1.50E-05 6.88E-01 2.82E+00
Neonatal sepsis KA60 Whole blood 2.34E-12 5.55E-01 1.13E+00
Neuroectodermal tumour 2A00.11 Brain stem tissue 1.66E-08 1.34E+00 3.78E+00
Non-alcoholic fatty liver disease DB92 Liver tissue 3.55E-01 -1.27E-01 -7.99E-01
Obesity related type 2 diabetes 5A11 Omental adipose tissue 2.06E-01 2.94E-03 1.61E-02
Olive pollen allergy CA08.00 Peripheral blood 2.47E-01 7.66E-01 8.70E-01
Oral cancer 2B6E Oral tissue 1.70E-05 7.07E-01 9.72E-01
Osteoarthritis FA00-FA0Z Synovial tissue 8.96E-01 -2.57E-01 -3.18E-01
Osteoporosis FB83.1 Bone marrow 2.57E-02 -5.88E-01 -2.93E+00
Ovarian cancer 2C73 Ovarian tissue 5.31E-02 1.86E-01 5.77E-01
Pancreatic cancer 2C10 Pancreas 6.09E-04 5.26E-01 1.44E+00
Parkinson's disease 8A00.0 Substantia nigra tissue 7.63E-01 -3.27E-02 -6.35E-02
Pediatric respiratory syncytial virus infection CA40.11 Peripheral blood 2.37E-05 4.33E-01 1.20E+00
Pituitary cancer 2D12 Pituitary tissue 2.16E-01 1.78E-01 4.74E-01
Pituitary gonadotrope tumour 2D12 Pituitary tissue 9.40E-01 3.60E-02 1.18E-01
Polycystic ovary syndrome 5A80.1 Vastus lateralis muscle 5.55E-01 -7.98E-03 -5.01E-02
Polycythemia vera 2A20.4 Whole blood 1.32E-04 -2.14E-01 -1.05E+00
Pompe disease 5C51.3 Biceps muscle 3.77E-07 1.47E+00 5.84E+00
Preterm birth KA21.4Z Myometrium 4.11E-01 -2.99E-01 -1.29E+00
Prostate cancer 2C82 Prostate 1.38E-02 -1.29E-01 -3.78E-01
Psoriasis EA90 Skin 7.87E-04 -8.87E-02 -3.15E-01
Rectal cancer 2B92 Rectal colon tissue 1.09E-01 -1.16E-01 -4.83E-01
Renal cancer 2C90-2C91 Kidney 9.50E-04 9.34E-01 1.58E+00
Retinoblastoma 2D02.2 Uvea 3.54E-12 2.32E+00 1.85E+01
Rheumatoid arthritis FA20 Synovial tissue 1.91E-02 9.84E-01 1.36E+00
Rhinovirus infection CA42.1 Nasal epithelium tissue 3.01E-01 -2.87E-02 -1.97E-01
Schizophrenia 6A20 Prefrontal cortex 3.03E-01 3.07E-02 3.27E-02
Schizophrenia 6A20 Superior temporal cortex 6.02E-01 4.65E-02 2.24E-01
Scleroderma 4A42.Z Whole blood 3.51E-02 1.36E-01 1.05E+00
Seizure 8A60-8A6Z Whole blood 7.77E-01 2.08E-01 5.11E-01
Sensitive skin EK0Z Skin 9.22E-01 5.20E-02 3.88E-01
Sepsis with septic shock 1G41 Whole blood 1.80E-08 2.32E-01 4.90E-01
Shwachman-Diamond syndrome 3A70.0 Bone marrow 1.49E-01 -7.21E-01 -2.12E+00
Sickle cell disease 3A51.0-3A51.3 Peripheral blood 1.62E-02 -7.40E-01 -8.89E-01
Simpson golabi behmel syndrome LD2C Adipose tissue 4.19E-01 1.72E-01 8.31E-01
Sjogren's syndrome 4A43.2 Salivary gland tissue 9.30E-01 -1.09E-01 -4.25E-01
Skin cancer 2C30-2C3Z Skin 8.33E-06 2.34E-01 7.65E-01
Thrombocythemia 3B63 Whole blood 2.61E-03 -3.69E-01 -1.82E+00
Thrombocytopenia 3B64 Whole blood 4.66E-01 -4.34E-01 -7.08E-01
Thyroid cancer 2D10 Thyroid 7.16E-05 6.46E-02 2.70E-01
Tibial muscular dystrophy 8C75 Muscle tissue 3.70E-07 5.90E-01 2.59E+00
Tuberous sclerosis complex LD2D.2 Perituberal tissue 9.59E-01 -1.75E-01 -2.65E+00
Type 2 diabetes 5A11 Liver tissue 5.67E-02 2.72E-01 1.24E+00
Ureter cancer 2C92 Urothelium 8.05E-01 -4.07E-02 -5.43E-02
Uterine cancer 2C78 Endometrium tissue 2.39E-05 2.50E-01 3.88E-01
Vitiligo ED63.0 Skin 5.84E-01 1.19E-02 5.28E-02
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⏷ Show the Full List of DME Expression Under 107 Diseases

References

1 MFN human ref: Chondroitin sulfate degradation.